Canonical Allele Identifier: CA1581197875
Community Standard Title: NM_001046.3(SLC12A2):c.*220C=
Gene: SLC12A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128186851C= , CM000667.2:g.128186851C= GRCh38
NC_000005.9:g.127522543C= , CM000667.1:g.127522543C= GRCh37
NC_000005.8:g.127550442C= NCBI36
NG_042286.1:g.108061C=

Transcript Alleles

HGVS Amino-acid Change
NM_001046.3:c.*220C= MANE Select NP_001037.1:n.*220C=
ENST00000262461.7:c.*220C= MANE Select ENSP00000262461.2:n.*220C=
NM_001046.2:c.*220C= NP_001037.1:n.*220C=
NM_001256461.1:c.*220C= NP_001243390.1:n.*220C=
NM_001256461.2:c.*220C= NP_001243390.1:n.*220C=
NR_046207.1:n.4089C=
NR_046207.2:n.4114C=
ENST00000262461.6:c.*220C= ENSP00000262461.2:n.*220C=
ENST00000343225.4:c.*220C= ENSP00000340878.4:n.*220C=
ENST00000509205.5:c.*472C= ENSP00000427109.1:n.*472C=
XM_017009771.1:c.*220C= XP_016865260.1:n.*220C=
XR_001742214.1:n.4083C=